All variants in the LAMB1 gene

Information The variants shown are described using the NM_002291.2 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.298G>A r.(?) p.(Val100Ile) - VUS g.107638853C>T g.107998408C>T LAMB1(NM_002291.2):c.298G>A (p.V100I) - LAMB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.468T>C r.(?) p.(Phe156=) - likely benign g.107626764A>G g.107986319A>G LAMB1(NM_002291.2):c.468T>C (p.F156=) - LAMB1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.476C>G r.(?) p.(Thr159Ser) - VUS g.107626756G>C g.107986311G>C LAMB1(NM_002291.2):c.476C>G (p.T159S) - LAMB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.506A>G r.(?) p.(Asp169Gly) - VUS g.107626726T>C - LAMB1(NM_002291.2):c.506A>G (p.D169G) - LAMB1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.536C>A r.(?) p.(Thr179Asn) - VUS g.107626696G>T g.107986251G>T LAMB1(NM_002291.2):c.536C>A (p.T179N) - LAMB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.816C>T r.(?) p.(=) - likely benign g.107621117G>A - LAMB1(NM_002291.3):c.816C>T (p.(Phe272=)) - LAMB1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.949C>G r.(?) p.(His317Asp) - VUS g.107618543G>C - LAMB1(NM_002291.3):c.949C>G (p.(His317Asp)) - LAMB1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1001-1G>C r.spl? p.? - pathogenic g.107616323C>G g.107975878C>G LAMB1(NM_002291.3):c.1001-1G>C - LAMB1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1103A>G r.(?) p.(Asn368Ser) - VUS g.107616220T>C - LAMB1(NM_002291.2):c.1103A>G (p.N368S) - LAMB1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1135C>T r.(?) p.(Pro379Ser) - likely benign g.107616188G>A g.107975743G>A LAMB1(NM_002291.2):c.1135C>T (p.(Pro379Ser)) - LAMB1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1135C>T r.(?) p.(Pro379Ser) - benign g.107616188G>A g.107975743G>A - - LAMB1_000053 32 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28750165 Germline - 32/2794 individuals - - - Mohammed Faruq
?/. - c.1447C>T r.(?) p.(Arg483Cys) - VUS g.107615466G>A - LAMB1(NM_002291.3):c.1447C>T (p.(Arg483Cys)) - LAMB1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1563-54G>A r.(=) p.(=) - VUS g.107605186C>T g.107964741C>T LAMB1(NM_002291.3):c.1563-54G>A - LAMB1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1571C>T r.(?) p.(Ala524Val) - VUS g.107605124G>A - LAMB1(NM_002291.2):c.1571C>T (p.A524V) - LAMB1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1590A>C r.(?) p.(Ser530=) - likely benign g.107605105T>G g.107964660T>G LAMB1(NM_002291.2):c.1590A>C (p.S530=) - LAMB1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1593C>T r.(?) p.(Cys531=) - likely benign g.107605102G>A - LAMB1(NM_002291.2):c.1593C>T (p.C531=) - LAMB1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1698+3G>C r.spl? p.? - VUS g.107604994C>G - LAMB1(NM_002291.2):c.1698+3G>C - LAMB1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1776T>G r.(?) p.(Pro592=) - benign g.107603431A>C g.107962986A>C LAMB1(NM_002291.3):c.1776T>G (p.P592=) - LAMB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1944C>T r.(?) p.(Pro648=) - likely benign g.107602035G>A - LAMB1(NM_002291.2):c.1944C>T (p.P648=) - LAMB1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2109+2_2109+3insTT r.spl? p.? - VUS g.107601649_107601650insAA - LAMB1(NM_002291.2):c.2109+2_2109+3insTT - LAMB1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2250G>A r.(?) p.(Pro750=) - likely benign g.107600954C>T g.107960509C>T LAMB1(NM_002291.2):c.2250G>A (p.P750=) - LAMB1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2314+10G>T r.(=) p.(=) - likely benign g.107600880C>A - LAMB1(NM_002291.3):c.2314+10G>T - LAMB1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2326G>A r.(?) p.(Asp776Asn) - VUS g.107600268C>T g.107959823C>T LAMB1(NM_002291.2):c.2326G>A (p.D776N) - LAMB1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2363A>G r.(?) p.(Asn788Ser) - VUS g.107600231T>C g.107959786T>C LAMB1(NM_002291.2):c.2363A>G (p.(Asn788Ser)) - LAMB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2363A>G r.(?) p.(Asn788Ser) - likely pathogenic (recessive) g.107600231T>C g.107959786T>C - - LAMB1_000028 - PubMed: Minardi 2020 - - Germline - - - - - Francesca Bisulli
?/. - c.2411A>G r.(?) p.(Asn804Ser) - VUS g.107600183T>C - LAMB1(NM_002291.2):c.2411A>G (p.N804S) - LAMB1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2459-10G>A r.(=) p.(=) - likely benign g.107599935C>T - LAMB1(NM_002291.3):c.2459-10G>A - LAMB1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2528T>C r.(?) p.(Phe843Ser) - VUS g.107599856A>G - LAMB1(NM_002291.2):c.2528T>C (p.F843S) - LAMB1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2537T>C r.(?) p.(Val846Ala) - VUS g.107599847A>G - LAMB1(NM_002291.2):c.2537T>C (p.V846A) - LAMB1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2545C>G r.(?) p.(Arg849Gly) - VUS g.107599839G>C g.107959394G>C LAMB1(NM_002291.2):c.2545C>G (p.R849G) - LAMB1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2557C>T r.(?) p.(Arg853Trp) - VUS g.107599827G>A g.107959382G>A LAMB1(NM_002291.2):c.2557C>T (p.R853W) - LAMB1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2576G>T r.(?) p.(Trp859Leu) - VUS g.107599808C>A g.107959363C>A LAMB1(NM_002291.2):c.2576G>T (p.W859L) - LAMB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2616C>T r.(?) p.(His872=) - likely benign g.107599768G>A g.107959323G>A LAMB1(NM_002291.2):c.2616C>T (p.H872=) - LAMB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2619C>T r.(?) p.(Ala873=) - likely benign g.107599765G>A g.107959320G>A LAMB1(NM_002291.2):c.2619C>T (p.A873=) - LAMB1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2691-9C>T r.(=) p.(=) - likely benign g.107596084G>A g.107955639G>A LAMB1(NM_002291.2):c.2691-9C>T - LAMB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2701G>T r.(?) p.(Gly901Cys) - VUS g.107596065C>A - LAMB1(NM_002291.3):c.2701G>T (p.G901C) - LAMB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.2723T>C r.(?) p.(Ile908Thr) - VUS g.107596043A>G g.107955598A>G LAMB1(NM_002291.2):c.2723T>C (p.I908T) - LAMB1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2882G>A r.(?) p.(Gly961Glu) - VUS g.107594172C>T - LAMB1(NM_002291.3):c.2882G>A (p.(Gly961Glu)) - LAMB1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2920C>G r.(?) p.(Gln974Glu) - benign g.107594134G>C g.107953689G>C LAMB1(NM_002291.2):c.2920C>G (p.Q974E) - LAMB1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2951C>G r.(?) p.(Thr984Arg) - VUS g.107594103G>C - LAMB1(NM_002291.2):c.2951C>G (p.T984R) - LAMB1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2988G>A r.(?) p.(Arg996=) - likely benign g.107594066C>T - LAMB1(NM_002291.2):c.2988G>A (p.R996=) - LAMB1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3025dup r.(?) p.(Cys1009Leufs*11) - VUS g.107594029dup - LAMB1(NM_002291.3):c.3025dup (p.(Cys1009Leufs*11)) - LAMB1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3037C>T r.(?) p.(Arg1013Trp) - VUS g.107594017G>A g.107953572G>A LAMB1(NM_002291.2):c.3037C>T (p.R1013W) - LAMB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3065A>G r.(?) p.(Gln1022Arg) - benign g.107593989T>C g.107953544T>C LAMB1(NM_002291.3):c.3065A>G (p.Q1022R) - LAMB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3124G>A r.(?) p.(Gly1042Ser) - VUS g.107592624C>T g.107952179C>T LAMB1(NM_002291.2):c.3124G>A (p.G1042S) - LAMB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3165G>C r.(?) p.(Leu1055Phe) - likely benign g.107592583C>G - LAMB1(NM_002291.2):c.3165G>C (p.L1055F) - LAMB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3194G>A r.(?) p.(Cys1065Tyr) - VUS g.107592554C>T g.107952109C>T LAMB1(NM_002291.2):c.3194G>A (p.C1065Y) - LAMB1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3199C>T r.(?) p.(Arg1067Cys) - VUS g.107592549G>A - LAMB1(NM_002291.3):c.3199C>T (p.(Arg1067Cys)) - LAMB1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3277G>A r.(?) p.(Gly1093Arg) - VUS g.107592471C>T g.107952026C>T LAMB1(NM_002291.2):c.3277G>A (p.(Gly1093Arg)) - LAMB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3279G>T r.(?) p.(Gly1093=) - likely benign g.107592469C>A g.107952024C>A LAMB1(NM_002291.3):c.3279G>T (p.G1093=) - LAMB1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3388C>T r.(?) p.(Arg1130*) - VUS g.107591674G>A - LAMB1(NM_002291.3):c.3388C>T (p.(Arg1130*)) - LAMB1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3509C>T r.(?) p.(Ser1170Leu) - VUS g.107580686G>A - LAMB1(NM_002291.3):c.3509C>T (p.(Ser1170Leu)) - LAMB1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.3543G>C r.(?) p.(Gln1181His) - likely pathogenic g.107580652C>G g.107940207C>G NM_002291.2(LAMB1):c.3543G>C p.(Gln1181His) - LAMB1_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
-?/. - c.3573C>T r.(?) p.(Ala1191=) - likely benign g.107580622G>A g.107940177G>A LAMB1(NM_002291.2):c.3573C>T (p.A1191=) - LAMB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3630T>C r.(?) p.(Ser1210=) - likely benign g.107580565A>G g.107940120A>G LAMB1(NM_002291.2):c.3630T>C (p.S1210=) - LAMB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3642G>T r.(?) p.(Gly1214=) - likely benign g.107580553C>A g.107940108C>A LAMB1(NM_002291.2):c.3642G>T (p.G1214=) - LAMB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3687G>A r.(?) p.(Glu1229=) - likely benign g.107580508C>T - LAMB1(NM_002291.2):c.3687G>A (p.E1229=) - LAMB1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3695A>G r.(?) p.(Asp1232Gly) - VUS g.107580500T>C g.107940055T>C LAMB1(NM_002291.2):c.3695A>G (p.(Asp1232Gly)) - LAMB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.3803_3804dup r.(?) p.(Val1269LysfsTer2) - likely pathogenic g.107577680_107577681dup - LAMB1(NM_002291.3):c.3803_3804dupAA (p.V1269Kfs*2) - LAMB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3992C>G r.(?) p.(Ala1331Gly) - VUS g.107576056G>C - LAMB1(NM_002291.3):c.3992C>G (p.(Ala1331Gly)) - LAMB1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4034C>G r.(?) p.(Thr1345Ser) - VUS g.107576014G>C - LAMB1(NM_002291.2):c.4034C>G (p.T1345S) - LAMB1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4036G>C r.(?) p.(Val1346Leu) - VUS g.107576012C>G - LAMB1(NM_002291.2):c.4036G>C (p.V1346L) - LAMB1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4114G>A r.(?) p.(Glu1372Lys) - likely benign g.107575934C>T g.107935489C>T LAMB1(NM_002291.2):c.4114G>A (p.(Glu1372Lys)) - LAMB1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4176C>T r.(?) p.(Ala1392=) - likely benign g.107575872G>A - LAMB1(NM_002291.2):c.4176C>T (p.A1392=) - LAMB1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4221C>T r.(?) p.(Ser1407=) - benign g.107572790G>A g.107932345G>A LAMB1(NM_002291.2):c.4221C>T (p.S1407=) - LAMB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4277G>C r.(?) p.(Gly1426Ala) - VUS g.107572734C>G - LAMB1(NM_002291.3):c.4277G>C (p.(Gly1426Ala)) - LAMB1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4381C>T r.(?) p.(Leu1461Phe) - VUS g.107572630G>A - LAMB1(NM_002291.3):c.4381C>T (p.(Leu1461Phe)) - LAMB1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4389G>C r.(?) p.(Lys1463Asn) - VUS g.107572622C>G g.107932177C>G LAMB1(NM_002291.2):c.4389G>C (p.(Lys1463Asn)) - LAMB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4519A>G r.(?) p.(Ile1507Val) - VUS g.107571819T>C - LAMB1(NM_002291.2):c.4519A>G (p.I1507V) - LAMB1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.4601C>T r.(?) p.(Pro1534Leu) - likely pathogenic g.107570001G>A g.107929556G>A NM_002291.2(LAMB1):c.4601C>T p.(Pro1534Leu) - LAMB1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
?/. - c.4601C>T r.(?) p.(Pro1534Leu) - VUS g.107570001G>A - LAMB1(NM_002291.2):c.4601C>T (p.P1534L) - LAMB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4640T>C r.(?) p.(Ile1547Thr) - likely benign g.107569962A>G g.107929517A>G LAMB1(NM_002291.2):c.4640T>C (p.(Ile1547Thr)) - LAMB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.4640T>C r.(?) p.(Ile1547Thr) - benign g.107569962A>G g.107929517A>G - - LAMB1_000039 196 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35915664 Germline - 196/2793 individuals - - - Mohammed Faruq
-/. - c.4640T>C r.(?) p.(Ile1547Thr) - benign g.107569962A>G g.107929517A>G - - LAMB1_000039 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35915664 Germline - 7/2793 individuals - - - Mohammed Faruq
?/. - c.4666C>G r.(?) p.(Gln1556Glu) - VUS g.107569936G>C g.107929491G>C LAMB1(NM_002291.2):c.4666C>G (p.Q1556E) - LAMB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4730A>C r.(?) p.(Glu1577Ala) - VUS g.107569872T>G g.107929427T>G LAMB1(NM_002291.2):c.4730A>C (p.(Glu1577Ala)) - LAMB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4768G>C r.(?) p.(Val1590Leu) - VUS g.107569628C>G - LAMB1(NM_002291.3):c.4768G>C (p.V1590L) - LAMB1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.4859T>C r.(?) p.(Ile1620Thr) - VUS g.107569537A>G g.107929092A>G LAMB1(NM_002291.2):c.4859T>C (p.(Ile1620Thr)) - LAMB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.4879T>C r.(?) p.(Leu1627=) - benign g.107569517A>G g.107929072A>G LAMB1(NM_002291.3):c.4879T>C (p.L1627=) - LAMB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.4947C>T r.(?) p.(Ser1649=) - VUS g.107566745G>A g.107926300G>A LAMB1(NM_002291.2):c.4947C>T (p.S1649=), LAMB1(NM_002291.3):c.4947C>T (p.(Ser1649=)) - LAMB1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4947C>T r.(?) p.(Ser1649=) - likely benign g.107566745G>A - LAMB1(NM_002291.2):c.4947C>T (p.S1649=), LAMB1(NM_002291.3):c.4947C>T (p.(Ser1649=)) - LAMB1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4964T>C r.(?) p.(Val1655Ala) - VUS g.107566728A>G g.107926283A>G LAMB1(NM_002291.2):c.4964T>C (p.V1655A), LAMB1(NM_002291.3):c.4964T>C (p.V1655A) - LAMB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4964T>C r.(?) p.(Val1655Ala) - VUS g.107566728A>G g.107926283A>G LAMB1(NM_002291.2):c.4964T>C (p.V1655A), LAMB1(NM_002291.3):c.4964T>C (p.V1655A) - LAMB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.5065-4A>G r.spl? p.? - likely benign g.107564838T>C - LAMB1(NM_002291.3):c.5065-4A>G - DLD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5157C>T r.(?) p.(Ala1719=) - likely benign g.107564742G>A g.107924297G>A LAMB1(NM_002291.2):c.5157C>T (p.A1719=) - DLD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5163G>C r.(?) p.(Met1721Ile) - likely benign g.107564736C>G - LAMB1(NM_002291.2):c.5163G>C (p.M1721I) - DLD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.5201_5224+28del r.spl p.? - pathogenic (recessive) g.107564647_ 107564698del g.107924202_107924253del - - LAMB1_000049 - PubMed: Minardi 2020 - - De novo - - - - - Francesca Bisulli
-/. - c.5225-10C>A r.(=) p.(=) - benign g.107564542G>T g.107924097G>T LAMB1(NM_002291.3):c.5225-10C>A - LAMB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.5225-9_5225-8insAT r.(=) p.(=) - likely benign g.107564541_107564542insTA - LAMB1(NM_002291.3):c.5225-9_5225-8insAT - DLD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.5225-7C>T r.(=) p.(=) - benign g.107564539G>A g.107924094G>A LAMB1(NM_002291.3):c.5225-7C>T - LAMB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.5225-6_5225-5del r.spl? p.? - benign g.107564539_107564540del g.107924094_107924095del LAMB1(NM_002291.3):c.5225-6_5225-5delCC - LAMB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.5301A>T r.(?) p.(Glu1767Asp) - VUS g.107564456T>A - LAMB1(NM_002291.3):c.5301A>T (p.(Glu1767Asp)) - DLD_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.5305C>T r.(?) p.(Arg1769Cys) - VUS g.107564452G>A - LAMB1(NM_002291.3):c.5305C>T (p.(Arg1769Cys)) - DLD_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.5324_5325dup r.(?) p.(Ser1776Ter) - VUS g.107564435_107564436dup g.107923990_107923991dup LAMB1(NM_002291.2):c.5325_5326insTA (p.(Ser1776Ter)) - LAMB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*4674T>A r.(=) p.(=) - benign g.107559722A>T g.107919277A>T DLD(NM_000108.5):c.*18A>T - DLD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*4674T>A r.(=) p.(=) - benign g.107559722A>T g.107919277A>T DLD(NM_000108.5):c.*18A>T - DLD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*4674T>A r.(=) p.(=) - benign g.107559722A>T g.107919277A>T DLD(NM_000108.5):c.*18A>T - DLD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*4876T>C r.(=) p.(=) - VUS g.107559520A>G - - - DLD_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*4894T>G r.(=) p.(=) - likely benign g.107559502A>C g.107919057A>C DLD(NM_000108.5):c.1422A>C (p.G474=) - DLD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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